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Related Experiment Videos

Phenotypic variation in LADD syndrome.

E Thompson, M Pembrey, J M Graham

    Journal of Medical Genetics
    |October 1, 1985
    PubMed
    Summary
    This summary is machine-generated.

    This report details a mother and son with symptoms consistent with lacrimo-auriculo-dento-digital (LADD) syndrome. Researchers suggest adding poor saliva and tear production to the known LADD syndrome characteristics.

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    Area of Science:

    • Genetics
    • Ophthalmology
    • Otorhinolaryngology

    Background:

    • Lacrimo-auriculo-dento-digital (LADD) syndrome is a rare genetic disorder.
    • It is typically inherited in an autosomal dominant pattern.
    • Previous cases highlight variability in symptom expression.

    Observation:

    • A mother and son presented with chronic dacrocystitis, cup-shaped ears, hearing loss, and abnormal dentition.
    • Both individuals also exhibited poor saliva and tear production.
    • Clinical features suggest a strong resemblance to LADD syndrome.

    Findings:

    • The reported cases align with the known phenotype of lacrimo-auriculo-dento-digital (LADD) syndrome.
    • The study emphasizes the variable expressivity of this autosomal dominant condition.

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  • Poor saliva and tear formation appear to be significant, potentially underreported, features.

    • Implications:

    • Expanding the recognized phenotype of LADD syndrome is crucial for accurate diagnosis.
    • Understanding the variability in LADD syndrome aids in genetic counseling and family planning.
    • Further research into the genetic basis and clinical spectrum of LADD syndrome is warranted.